FlyBase Allele Report: Hsap\WDR37[T125I.UAS]

General Information

Symbol

Hsap\WDR37^T125I.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0352279

Feature type

allele

Associated gene

Hsap\WDR37

Associated Insertion(s)

Carried in Construct

PBac{UAS-hWDR37.T125I}

Key Links

Transgenic product class

missense_variant

(Kanca et al., 2019)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Kanca et al., 2019)

Mutagen

in vitro construct

(Kanca et al., 2019)

Progenitor genotype

Carried in construct

PBac{UAS-hWDR37.T125I}

Cytology

Description

UAS regulates expression of a Hsap\WDR37 cDNA containing the p.Thr125Ile variant associated with a novel syndromic neurological disorder (with phenotypes of Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia).

(Kanca et al., 2019)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Hsap\WDR37

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

Variant Molecular Consequences

Associated Sequence Data

DDBJ / EMBL / GenBank

DNA sequence

Protein sequence

UniProtKB/Swiss-Prot

UniProtKB/TrEMBL

Expression Data

Reporter Expression

Additional Information

Statement

Reference

Marker for

Reflects expression of

Reporter construct used in assay

Human Disease Associations

Disease Ontology (DO) Annotations

Models Based on Experimental Evidence ( 1 )

Disease

Evidence

References

model of neurooculocardiogenitourinary syndrome

CEA with Wdr37^GAL4Δ

(Kanca et al., 2019)

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Kanca et al., 2019)

WDR37:p.Thr125Ile

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

neurooculocardiogenitourinary syndrome

External database links

ClinVar: WDR37_440948

Comments concerning this variant

Phenotypic Data

Phenotypic Class

viable, with Scer\GAL4^Wdr37-GAL4Δ

(Kanca et al., 2019)

Phenotype Manifest In

Detailed Description

Statement

Reference

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

NOT Suppressor of

Statement

Reference

Scer\GAL4^Wdr37-GAL4Δ/Hsap\WDR37^T125I.UAS is a non-suppressor of bang sensitive phenotype of Wdr37^GAL4Δ/Df(3R)Exel6179

(Kanca et al., 2019)

Scer\GAL4^Wdr37-GAL4Δ/Hsap\WDR37^T125I.UAS is a non-suppressor of abnormal locomotor behavior | adult stage phenotype of Wdr37^GAL4Δ/Df(3R)Exel6179

(Kanca et al., 2019)

Scer\GAL4^Wdr37-GAL4Δ/Hsap\WDR37^T125I.UAS is a non-suppressor of abnormal mating | male limited phenotype of Wdr37^GAL4Δ/Df(3R)Exel6179

(Kanca et al., 2019)

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (1)

Reported As

Symbol Synonym

Hsap\WDR37^T125I.UAS

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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